Description
The Named Allele Matcher is responsible for calling diplotypes from variant call data. While it is designed to be used in the PharmCAT pipeline, it can also be run independently. The Named Allele Matcher does not currently support structural variants, including gene copy number. If structural variants are detected in the VCF data, it will be ignored and a warning will be issued. If it detects more than the expected number of alleles in the GT column of the VCF, only the first two alleles will be used and a warning will be issued. On haploid chromosomes, only the first allele will be used.
Tools
pharmcat Documentation
"PharmCAT (Pharmacogenomics Clinical Annotation Tool) is a bioinformatics tool that analyzes genetic variants to predict drug response and tailor medical treatment to an individual patient’s genetic profile."
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